Variant report

Variant	nsv906946
Chromosome Location	chr16:76581602-76612750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:76608141-76609300	HepG2	liver:	n/a	n/a
2	BATF	chr16:76610960-76611272	GM12878	blood:	n/a	n/a
3	BATF	chr16:76610931-76611290	GM12878	blood:	n/a	n/a
4	BHLHE40	chr16:76610846-76611310	GM12878	blood:	n/a	n/a
5	BHLHE40	chr16:76608424-76608923	HepG2	liver:	n/a	n/a
6	CEBPB	chr16:76608534-76608982	HepG2	liver:	n/a	n/a
7	CEBPB	chr16:76608672-76608920	A549	lung:	n/a	n/a
8	CEBPB	chr16:76589711-76590032	HepG2	liver:	n/a	chr16:76589843-76589855 chr16:76589975-76589987
9	CEBPB	chr16:76591052-76591187	HepG2	liver:	n/a	n/a
10	CEBPB	chr16:76608602-76608974	HepG2	liver:	n/a	n/a
11	CHD1	chr16:76610796-76610923	GM12878	blood:	n/a	n/a
12	CHD2	chr16:76610862-76611217	GM12878	blood:	n/a	n/a
13	CREB1	chr16:76608590-76609011	HepG2	liver:	n/a	n/a
14	CTCF	chr16:76596320-76596470	Caco-2	colon:	n/a	n/a
15	CTCF	chr16:76587254-76587260	MCF-7	breast:	n/a	n/a
16	CTCF	chr16:76610183-76610238	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr16:76587264-76587314	MCF-7	breast:	n/a	n/a
18	CUX1	chr16:76610948-76611430	GM12878	blood:	n/a	n/a
19	EBF1	chr16:76599575-76599756	GM12878	blood:	n/a	n/a
20	EBF1	chr16:76606074-76606615	GM12878	blood:	n/a	chr16:76606353-76606364
21	EBF1	chr16:76610880-76611208	GM12878	blood:	n/a	n/a
22	EBF1	chr16:76606140-76606565	GM12878	blood:	n/a	chr16:76606353-76606364
23	EBF1	chr16:76606216-76606483	GM12878	blood:	n/a	chr16:76606353-76606364
24	EBF1	chr16:76610831-76611323	GM12878	blood:	n/a	n/a
25	EP300	chr16:76610852-76611251	GM12878	blood:	n/a	n/a
26	EP300	chr16:76608517-76609028	HepG2	liver:	n/a	n/a
27	EP300	chr16:76608814-76608890	GM12878	blood:	n/a	n/a
28	EP300	chr16:76610933-76611113	GM12878	blood:	n/a	n/a
29	EP300	chr16:76606286-76606554	GM12878	blood:	n/a	n/a
30	EP300	chr16:76608487-76608974	GM12878	blood:	n/a	n/a
31	EP300	chr16:76610803-76611329	GM12878	blood:	n/a	n/a
32	EP300	chr16:76608440-76609047	HepG2	liver:	n/a	n/a
33	EP300	chr16:76608556-76608975	HepG2	liver:	n/a	n/a
34	FOS	chr16:76608130-76608205	MCF10A-Er-Src	breast:	n/a	chr16:76608158-76608170 chr16:76608160-76608168
35	FOS	chr16:76608115-76608187	MCF10A-Er-Src	breast:	n/a	chr16:76608158-76608170 chr16:76608160-76608168
36	FOSL2	chr16:76608506-76608891	HepG2	liver:	n/a	n/a
37	FOSL2	chr16:76608590-76608954	HepG2	liver:	n/a	n/a
38	FOXA1	chr16:76608471-76609107	HepG2	liver:	n/a	n/a
39	FOXA1	chr16:76608331-76609089	HepG2	liver:	n/a	n/a
40	FOXA1	chr16:76608481-76608981	HepG2	liver:	n/a	n/a
41	FOXA1	chr16:76608040-76609115	HepG2	liver:	n/a	n/a
42	FOXA1	chr16:76610842-76611108	HepG2	liver:	n/a	n/a
43	FOXA2	chr16:76608092-76609262	HepG2	liver:	n/a	n/a
44	FOXA2	chr16:76608537-76608981	HepG2	liver:	n/a	n/a
45	FOXA2	chr16:76608622-76609053	A549	lung:	n/a	n/a
46	GABPA	chr16:76605395-76605500	GM12878	blood:	n/a	n/a
47	GATA3	chr16:76591000-76591056	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr16:76592161-76592543	SH-SY5Y	brain:	n/a	n/a
49	HDAC2	chr16:76608487-76609082	HepG2	liver:	n/a	n/a
50	HNF4A	chr16:76608510-76608949	HepG2	liver:	n/a	chr16:76608828-76608843

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76607256..76609840-chr16:76614807..76617382,2	K562	blood:
2	chr16:76584372..76585914-chr16:76586080..76587632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261833	TF binding region
ENSG00000261833	chromatin interactions

Extended variants
information (count: 1064 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6564350	chr16:76581602-76581603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182992783	chr16:76581627-76581628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145629719	chr16:76581649-76581650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186335642	chr16:76581650-76581651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546083389	chr16:76581658-76581659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547371602	chr16:76581696-76581697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576649689	chr16:76581764-76581765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7185702	chr16:76581785-76581786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191243002	chr16:76581815-76581816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527705347	chr16:76581819-76581820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541380195	chr16:76581824-76581825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7187962	chr16:76581833-76581834	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565511153	chr16:76581901-76581902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11863971	chr16:76581952-76581953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568704559	chr16:76581979-76581980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538688457	chr16:76582003-76582004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530992266	chr16:76582047-76582048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34339747	chr16:76582104-76582105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544430790	chr16:76582108-76582109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138491589	chr16:76582119-76582120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563016505	chr16:76582140-76582141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368349144	chr16:76582145-76582146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76455391	chr16:76582164-76582165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567788768	chr16:76582172-76582173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397854644	chr16:76582193-76582194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79657361	chr16:76582194-76582195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66981960	chr16:76582204-76582205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78209725	chr16:76582216-76582217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183555413	chr16:76582291-76582292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150670617	chr16:76582301-76582302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12927455	chr16:76582306-76582307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576769189	chr16:76582317-76582318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201537994	chr16:76582357-76582358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187475274	chr16:76582363-76582364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542411798	chr16:76582374-76582375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374935428	chr16:76582383-76582384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555910210	chr16:76582386-76582387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572459629	chr16:76582398-76582399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541072726	chr16:76582411-76582412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564506080	chr16:76582426-76582427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369409176	chr16:76582449-76582450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545678627	chr16:76582467-76582468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562372262	chr16:76582477-76582478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550455361	chr16:76582490-76582491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531424871	chr16:76582491-76582492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547946938	chr16:76582502-76582503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561638983	chr16:76582565-76582566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527376941	chr16:76582574-76582575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57531985	chr16:76582596-76582597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570410012	chr16:76582667-76582668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76554600-76587200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:76554600-76587200	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:76556200-76581800	Weak transcription	Brain Substantia Nigra	brain
5	chr16:76581800-76582000	Enhancers	Brain Substantia Nigra	brain
6	chr16:76581800-76582200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:76582000-76582800	Enhancers	Fetal Kidney	kidney
8	chr16:76582000-76583400	Enhancers	Fetal Intestine Small	intestine
9	chr16:76582000-76589400	Weak transcription	Brain Substantia Nigra	brain
10	chr16:76587200-76587400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:76587200-76588000	Strong transcription	Brain Cingulate Gyrus	brain
12	chr16:76587200-76588000	Strong transcription	Brain Hippocampus Middle	brain
13	chr16:76588000-76589400	Weak transcription	Brain Hippocampus Middle	brain
14	chr16:76588000-76599400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:76589400-76589800	Enhancers	Brain Anterior Caudate	brain
16	chr16:76589400-76590000	Enhancers	Brain Hippocampus Middle	brain
17	chr16:76589400-76590000	Enhancers	Brain Substantia Nigra	brain
18	chr16:76590000-76598600	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:76592400-76592800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:76598600-76598800	Enhancers	Brain Hippocampus Middle	brain
21	chr16:76599400-76599600	Enhancers	Brain Cingulate Gyrus	brain
22	chr16:76599400-76599600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr16:76599400-76599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:76607200-76607600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:76607400-76608000	Enhancers	HepG2	liver
26	chr16:76608000-76608600	Enhancers	Fetal Intestine Small	intestine
27	chr16:76608000-76608800	Flanking Active TSS	HepG2	liver
28	chr16:76608400-76609400	Enhancers	Fetal Intestine Large	intestine
29	chr16:76608600-76609000	Enhancers	Liver	Liver
30	chr16:76608800-76610000	Enhancers	HepG2	liver
31	chr16:76610000-76610400	Weak transcription	HepG2	liver
32	chr16:76610200-76612200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr16:76610400-76611200	Enhancers	Fetal Lung	lung
34	chr16:76610400-76611200	Enhancers	HepG2	liver
35	chr16:76610400-76611400	Enhancers	Primary hematopoietic stem cells	blood
36	chr16:76610400-76611800	Enhancers	GM12878-XiMat	blood
37	chr16:76611200-76611800	Enhancers	Pancreatic Islets	Pancreatic Islet

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